Basilicata–Akhtar syndrome is a genetic disorder which is caused by variants (also known as mutations) in the MSL3 gene. The MSL3 gene resides on the X chromosome (one of the two sex-determining chromosomes) and is important for the regulation of other genes. Basilicata-Akhtar syndrome is a X-linked condition and female and male patients can be affected. Variants in MSL3 are typically not inherited from the parents and occur in the affected family member for the first time (a so called de novo variant).
Most patients have a delay in multiple developmental areas such as speech and language, social, cognition, play and motor skills and some patients present with autism-spectrum disorder. Other variable features are macrocephaly (overly large head), muscle tone abnormalities and gastrointestinal problems such as constipation. Some patients have dysmorphic features (difference of body structure) such as a prominent forehead or low set ears. Not all individuals with a variants in the MSL3 gene have these features.
About 40 patients with Basilicata–Akhtar syndrome have been described in the literature to date. There are probably more, so far undiagnosed patients.
MSL3